MCID: CHR359

Chronic Infections, Due to Mbl Deficiency malady

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Summaries for Chronic Infections, Due to Mbl Deficiency

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MalaCards based summary: Chronic Infections, Due to Mbl Deficiency An important gene associated with Chronic Infections, Due to Mbl Deficiency is MBL2 (mannose-binding lectin (protein C) 2, soluble). Affiliated tissues include liver.

Description from OMIM:46 614372

Aliases & Classifications for Chronic Infections, Due to Mbl Deficiency

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Chronic Infections, Due to Mbl Deficiency, Aliases & Descriptions:

Name: Chronic Infections, Due to Mbl Deficiency 46


Related Diseases for Chronic Infections, Due to Mbl Deficiency

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Symptoms for Chronic Infections, Due to Mbl Deficiency

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Clinical features from OMIM:

614372

Drugs & Therapeutics for Chronic Infections, Due to Mbl Deficiency

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Drug clinical trials:

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Search NIH Clinical Center for Chronic Infections, Due to Mbl Deficiency

Genetic Tests for Chronic Infections, Due to Mbl Deficiency

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Anatomical Context for Chronic Infections, Due to Mbl Deficiency

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MalaCards organs/tissues related to Chronic Infections, Due to Mbl Deficiency:

32
Liver

Animal Models for Chronic Infections, Due to Mbl Deficiency or affiliated genes

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Publications for Chronic Infections, Due to Mbl Deficiency

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Variations for Chronic Infections, Due to Mbl Deficiency

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Clinvar genetic disease variations for Chronic Infections, Due to Mbl Deficiency:

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id Gene Name Type Significance SNP ID Assembly Location
1MBL2NM_000242.2(MBL2): c.161G> A (p.Gly54Asp)single nucleotide variantPathogenicrs1800450GRCh37Chr 10, 54531235: 54531235
2MBL2NM_000242.2(MBL2): c.170G> A (p.Gly57Glu)single nucleotide variantPathogenicrs1800451GRCh37Chr 10, 54531226: 54531226
3MBL2NM_000242.2(MBL2): c.154C> T (p.Arg52Cys)single nucleotide variantPathogenicrs5030737GRCh37Chr 10, 54531242: 54531242

Expression for genes affiliated with Chronic Infections, Due to Mbl Deficiency

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Expression patterns in normal tissues for genes affiliated with Chronic Infections, Due to Mbl Deficiency

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Pathways for genes affiliated with Chronic Infections, Due to Mbl Deficiency

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Compounds for genes affiliated with Chronic Infections, Due to Mbl Deficiency

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GO Terms for genes affiliated with Chronic Infections, Due to Mbl Deficiency

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Products for genes affiliated with Chronic Infections, Due to Mbl Deficiency

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  • Antibodies
  • Proteins
  • Lysates

Sources for Chronic Infections, Due to Mbl Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet